Have questions? Visit https://www.reddit.com/r/SNPedia

rs267608154

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
Make rs267608154(-;-)
Make rs267608154(-;ACAG)
ReferenceGRCh38 38.1/141
Chromosome7
Position5995573
GenePMS2
is asnp
is mentioned by
dbSNPrs267608154
ebirs267608154
HLIrs267608154
Exacrs267608154
Varsomers267608154
Maprs267608154
PheGenIrs267608154
hapmaprs267608154
1000 genomesrs267608154
hgdprs267608154
ensemblrs267608154
gopubmedrs267608154
geneviewrs267608154
scholarrs267608154
googlers267608154
pharmgkbrs267608154
gwascentralrs267608154
openSNPrs267608154
23andMers267608154
23andMe allrs267608154
SNP Nexus

SNPshotrs267608154
SNPdbers267608154
MSV3drs267608154
GWAS Ctlgrs267608154
Max Magnitude0
ClinVar
Risk rs267608154(;)
Alt rs267608154(;)
Reference rs267608154(ACAG;ACAG)
Significance Pathogenic
Disease Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PMS2
CLNDBN Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000007.13:g.6035204_6035207delCTGT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076894.2, RCV000216774.1,